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Items: 1 to 20 of 102

1.

Genetics of the pediatric glaucomas.

Girgis N, Chen TC.

Int Ophthalmol Clin. 2011 Summer;51(3):107-17. doi: 10.1097/IIO.0b013e31821e538b. Review. No abstract available.

PMID:
21633242
2.

Developmental ocular abnormalities and glaucoma.

Crandall AS.

Int Ophthalmol Clin. 1984 Spring;24(1):73-86. No abstract available.

PMID:
6443569
3.

Stickler syndrome associated with congenital glaucoma.

Shenoy BH, Mandal AK.

Lancet. 2013 Feb 2;381(9864):422. doi: 10.1016/S0140-6736(12)61813-3. No abstract available.

PMID:
23374481
4.

Histopathological study of a case with glaucoma due to Sturge-Weber syndrome.

Akabane N, Hamanaka T.

Jpn J Ophthalmol. 2003 Mar-Apr;47(2):151-7.

PMID:
12738548
5.

Prevention of retinal detachment in Stickler syndrome: the Cambridge prophylactic cryotherapy protocol.

Fincham GS, Pasea L, Carroll C, McNinch AM, Poulson AV, Richards AJ, Scott JD, Snead MP.

Ophthalmology. 2014 Aug;121(8):1588-97. doi: 10.1016/j.ophtha.2014.02.022. Epub 2014 May 1.

6.

Aniridia and Brachmann-de Lange syndrome: a review of ocular surface and anterior segment findings.

Lee WB, Brandt JD, Mannis MJ, Huang CQ, Rabin GJ.

Cornea. 2003 Mar;22(2):178-80. Review.

PMID:
12605058
7.

Focus on molecules: collagens V and XI.

Smith SM, Birk DE.

Exp Eye Res. 2012 May;98:105-6. doi: 10.1016/j.exer.2010.08.003. Epub 2010 Aug 10. No abstract available.

8.

Molecular genetics of the glaucomas: mapping of the first five "GLC" loci.

Raymond V.

Am J Hum Genet. 1997 Feb;60(2):272-7. Review. No abstract available.

9.

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist.

Snead MP, McNinch AM, Poulson AV, Bearcroft P, Silverman B, Gomersall P, Parfect V, Richards AJ.

Eye (Lond). 2011 Nov;25(11):1389-400. doi: 10.1038/eye.2011.201. Epub 2011 Sep 16. Review.

10.

Primary congenital and developmental glaucomas.

Lewis CJ, Hedberg-Buenz A, DeLuca AP, Stone EM, Alward WLM, Fingert JH.

Hum Mol Genet. 2017 Aug 1;26(R1):R28-R36. doi: 10.1093/hmg/ddx205. Review.

PMID:
28549150
11.

Unilateral persistent fetal vasculature coexisting with anterior segment dysgenesia.

Cañizares B, Yago I, Piñero Á, Ruiz M.

Arch Soc Esp Oftalmol. 2017 Jan;92(1):40-43. doi: 10.1016/j.oftal.2016.03.021. Epub 2016 May 24. English, Spanish.

PMID:
27230591
12.

[Genetics of glaucoma].

Martin XD.

Rev Med Suisse Romande. 1994 Jun;114(6):557-64. French.

PMID:
8047772
13.

Sensorineural hearing loss and nail patella syndrome.

Hussain SS, Hope GA.

Arch Otolaryngol Head Neck Surg. 1994 Jun;120(6):674-5. No abstract available.

PMID:
8198793
14.

[Occurrence of glaucoma in phakomatosis].

Koraszewska-Matuszewska B, Samochowiec-Donocik E, Pieczara E, Papiez M.

Klin Oczna. 1994 Jun-Jul;96(6-7):228-32. Polish.

PMID:
7897982
15.

Glaucoma with the oculocerebrorenal syndrome of Lowe.

Walton DS, Katsavounidou G, Lowe CU.

J Glaucoma. 2005 Jun;14(3):181-5.

PMID:
15870597
16.

Analysis of FOXD3 sequence variation in human ocular disease.

Kloss BA, Reis LM, Brémond-Gignac D, Glaser T, Semina EV.

Mol Vis. 2012;18:1740-9. Epub 2012 Jun 27.

17.

COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome.

Dupont C, Baumann C, Le Du N, Schaefer E, Guimiot F, Boutaud L, Capri Y, Spaggiari E, Aboura A, Benzacken B, Tabet AC.

Am J Med Genet A. 2013 Oct;161A(10):2663-5. doi: 10.1002/ajmg.a.36081. Epub 2013 Aug 5. No abstract available.

PMID:
23918474
18.

The association of Buschke-Ollendorf syndrome and nail-patella syndrome.

Drouin CA, Grenon H.

J Am Acad Dermatol. 2002 Apr;46(4):621-5.

PMID:
11907523
19.

Peters' anomaly and combination with other malformations (series of 16 patients).

Mayer UM.

Ophthalmic Paediatr Genet. 1992 Jun;13(2):131-5.

PMID:
1495763
20.

Hearing impairment in Stickler syndrome.

Admiraal RJ, Szymko YM, Griffith AJ, Brunner HG, Huygen PL.

Adv Otorhinolaryngol. 2002;61:216-23. Review. No abstract available.

PMID:
12408087

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